Phenotypes Associated with This Genotype

Genotype
MGI:5297134

• Allelic Composition: Brca1^tm2Cxd/Brca1^tm2Cxd; Trp53^tm1Brd/Trp53⁺; Tg(MMTV-cre)4Mam/0
• Genetic Background: involves: 129S6/SvEvTac * 129S7/SvEvBrd * C57BL/6 * FVB

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

endocrine/exocrine glands

increased mammary gland epithelial cell proliferation ( J:132088 )

♀ • mutants exhibit increased mammary epithelial cellular proliferation compared to controls when treated with exogenous estrogen

mammary gland alveolar hyperplasia ( J:132088 )

♀ • mutants exposed to estrogen exhibit an increase in the number of hyperplastic alveolar nodules per mammary gland compared to mutants with wild-type Trp53 and also an increase in the percentage of mice with hyperplastic alveolar nodules

increased mammary gland tumor incidence ( J:132088 )

• 25% of mutants develop invasive mammary cancer when exposed to exogenous estrogen

• cancers are Esr1-negative

neoplasm

increased mammary gland tumor incidence ( J:132088 )

• 25% of mutants develop invasive mammary cancer when exposed to exogenous estrogen

• cancers are Esr1-negative

preneoplasia ( J:132088 )

• mutants develop mammary gland preneoplasia that are Esr1-negative

renal/urinary system

ureter obstruction ( J:132088 )

• 25% of mutants develop ureteral obstruction 1-3 months after estrogen pellet placement

integument

increased mammary gland epithelial cell proliferation ( J:132088 )

♀ • mutants exhibit increased mammary epithelial cellular proliferation compared to controls when treated with exogenous estrogen

mammary gland alveolar hyperplasia ( J:132088 )

♀ • mutants exposed to estrogen exhibit an increase in the number of hyperplastic alveolar nodules per mammary gland compared to mutants with wild-type Trp53 and also an increase in the percentage of mice with hyperplastic alveolar nodules

increased mammary gland tumor incidence ( J:132088 )

• 25% of mutants develop invasive mammary cancer when exposed to exogenous estrogen

• cancers are Esr1-negative

cellular

increased mammary gland epithelial cell proliferation ( J:132088 )

♀ • mutants exhibit increased mammary epithelial cellular proliferation compared to controls when treated with exogenous estrogen

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
hereditary breast ovarian cancer syndrome		DOID:5683		J:132088